"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 236123	NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	ABCA4, LOC126805793 (P1660L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic; other
Select item 812202	NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs)	ABCA4, LOC126805793 (N1632fs)	Duplication (frameshift variant)	Cone-rod dystrophy	GPathogenic
Select item 812203	NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	ABCA4, LOC126805793 (W1618C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic/Likely pathogenic

ClinVar